Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg140Gln (p.R140Q)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH2 p.Arg140Trp (p.R140W) ( ENST00000540499.2, ENST00000330062.8, ENST00000559482.5 )
IDH2 p.Arg140Gly (p.R140G) ( ENST00000540499.2, ENST00000559482.5, ENST00000330062.8 )
IDH2 p.Arg140Gln (p.R140Q) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH2 p.Arg140Trp (p.R140W) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH2 p.Arg140Gly (p.R140G) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 ) - Associated Disease
- D-2-hydroxyglutaric aciduria 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs